TABLE 1—
The 3 Most Common State Public Health Genetics Programs, by Provision of Essential Public Health Services
Genetics Programs | |||
Essential Public Health Servicesa | NBS | Clinical Geneticsb | Birth Defectsc |
Monitor health status to identify and solve community health problems | Calculate birth defects rates | ||
Diagnose and investigate health problems and health hazards in the community | Screen newborns before leaving the hospital Process specimens at state labs, often with tandem mass spectrometry |
Conduct active and passive surveillance systems monitoring birth defects | |
Inform, educate, and empower people about health issues | Provide written information for families about NBS | Conduct sickle cell disease outreach efforts | Sponsor folic acid campaigns and teratogen information services |
Mobilize community partnerships and action to identify and solve health problems | Partner with universities and advocacy groups to provide services and referrals | Partner with universities and advocacy groups to provide services and referrals | Partner with the March of Dimes for folic acid campaigns |
Develop policies and plans that support individual and community health efforts | Change rules and regulations guiding NBS expansion Use advisory committees |
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Enforce laws and regulations that protect health and ensure safety | Monitor quality of laboratories used to process NBS specimens | ||
Link people to needed personal health services and assure the provision of health care when otherwise unavailable | Refer families whose children are identified by screening Provide assistance with dietary formulas |
Sponsor outreach clinics and financial assistance for individuals in need | Sponsor teratogen information services |
Ensure a competent public and personal health care workforce | Develop presentations and guidelines to health care providers about NBS | Facilitate consultations between genetic specialists and community health care providers | Sponsor continuing medical education from teratogen information services |
Evaluate effectiveness, accessibility, and quality of personal and population-based health services | Measure counts of babies screened and conditions detected | Measure counts of individuals served at clinics | |
Research for new insights and innovative solutions to health problems | Conduct epidemiological research on birth defects |
Note. NBS = newborn screening.
aServices as defined by Harrell and Baker.12
bClinical genetic service programs ensure the quality and accessibility of health services with diagnostic evaluations and confirmatory testing, counseling, case management, consultation, referral, and treatment programs for both children and adults with genetic and inherited disorders.
cThe monitoring, surveillance, and prevention of birth defects.